regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADCY2_chr5_7391138_7835081 | 7673269 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0041 | 1 | 140 | 0.0071 | 18 | c.721 others(37): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7673269 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0080 | 1 | 140 | 0.0071 | 18 | c.721 others(37): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7804040 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01109.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0011 | a0001c0001t0002a0001c0001t0003a0002c0003t0001others(2): Show | a0001c0001t0002g0115a0001c0001t0003g0071a0002c0003t0001g0022others(2): Show | 5 | 140 | 0.0357 | 18 | c.277 others(35): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY3_chr2_24814169_24925237 | 24817466 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01167.hp1 others(4): Show |
a0001 | a0001c0009a0001c0015a0001c0026others(1): Show | a0001c0009t0001a0001c0009t0003a0001c0015t0003others(2): Show | a0001c0009t0001g0028a0001c0009t0003g0221a0001c0009t0003g0223others(4): Show | 7 | 272 | 0.0257 | 18 | c.*24 others(29): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 1702 | chr2 | TogoVar | ||||||
ADCY3_chr2_24814169_24925237 | 24912548 | C | CGCATGTG others(11): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0128 | 1 | 272 | 0.0037 | 18 | c.675 others(35): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123310103 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02630.hp1 NA19011.hp1 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0001t0002a0001c0021t0030 | a0001c0001t0001g0126a0001c0001t0002g0076a0001c0021t0030g0186 | 3 | 260 | 0.0115 | 18 | c.244 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 12/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123345765 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01346.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0005 | a0001c0001t0002g0006a0001c0011t0005g0179a0001c0011t0005g0180 | 3 | 260 | 0.0115 | 18 | c.140 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0013 | a0001c0001t0011a0003c0013t0001 | a0001c0001t0011g0237a0003c0013t0001g0254a0003c0013t0001g0255 | 3 | 260 | 0.0115 | 18 | c.140 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACAGACA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02293.hp2 HG02523.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0012others(1): Show | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0106others(6): Show | 9 | 260 | 0.0346 | 18 | c.140 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACAGACA others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 260 | 0.0039 | 18 | c.140 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123346607 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01515.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0025 | a0001c0001t0001g0241a0001c0001t0002g0073a0001c0001t0025g0108 | 3 | 260 | 0.0115 | 18 | c.140 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123348036 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18951.hp2 NA19004.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0012 | a0001c0001t0001g0142a0001c0001t0002g0081a0001c0002t0012g0072 | 3 | 260 | 0.0115 | 18 | c.128 others(35): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 2/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123358155 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0203 | 2 | 260 | 0.0077 | 18 | c.113 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123358195 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0022 | a0001c0001t0017g0005a0001c0001t0022g0085 | 2 | 260 | 0.0077 | 18 | c.113 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123359331 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG01496.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0013 | a0001c0001t0001a0001c0001t0002a0001c0003t0007others(1): Show | a0001c0001t0001g0164a0001c0001t0001g0216a0001c0001t0001g0234others(3): Show | 6 | 260 | 0.0231 | 18 | c.113 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123385308 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0038 | 1 | 260 | 0.0039 | 18 | c.113 others(39): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123396819 | C | CAGGCGAG others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02630.hp1 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0015a0001c0021t0030 | a0001c0001t0015g0184a0001c0021t0030g0186 | 2 | 260 | 0.0077 | 18 | c.113 others(39): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123439076 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(84): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0097a0001c0001t0001g0101a0001c0001t0001g0102others(84): Show | 87 | 260 | 0.3346 | 18 | c.113 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY7_chr16_50261551_50323135 | 50281395 | G | GGCAGGTG others(11): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0117 | 1 | 338 | 0.0030 | 18 | c.-26 others(37): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ADCY8_chr8_130775301_131045909 | 130926940 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0232 | 1 | 246 | 0.0041 | 18 | c.148 others(39): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130936073 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 246 | 0.0041 | 18 | c.148 others(35): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130992382 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02056.hp1 HG02071.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0001a0001c0004t0004 | a0001c0003t0002g0096a0001c0004t0001g0103a0001c0004t0004g0101 | 3 | 246 | 0.0122 | 18 | c.961 others(35): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 131003206 | T | TCTCACAC others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0231 | 1 | 246 | 0.0041 | 18 | c.961 others(37): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3969569 | A | AATACATA others(11): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0057 | a0001c0003t0057g0036 | 1 | 320 | 0.0031 | 18 | c.287 others(37): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3969569 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02165.hp1 NA19063.hp1 |
a0001a0002 | a0001c0009a0002c0004 | a0001c0009t0003a0002c0004t0009 | a0001c0009t0003g0272a0002c0004t0009g0264 | 2 | 320 | 0.0063 | 18 | c.287 others(37): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3969612 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0032 | a0002c0032t0008 | a0002c0032t0008g0152 | 1 | 320 | 0.0031 | 18 | c.287 others(37): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4000968 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01943.hp1 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0022a0001c0058others(2): Show | a0001c0003t0001a0001c0022t0059a0001c0058t0096others(2): Show | a0001c0003t0001g0276a0001c0022t0059g0051a0001c0058t0096g0311others(2): Show | 5 | 320 | 0.0156 | 18 | c.188 others(37): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4018951 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01943.hp1 HG01981.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0011a0001c0001t0029a0001c0001t0071others(18): Show | a0001c0001t0011g0206a0001c0001t0029g0027a0001c0001t0071g0035others(20): Show | 23 | 320 | 0.0719 | 18 | c.169 others(39): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4097487 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0145 | 1 | 320 | 0.0031 | 18 | c.169 others(39): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4097487 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02896.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1 |
a0001a0002a0003 | a0001c0048a0002c0015a0003c0013 | a0001c0048t0093a0002c0015t0001a0003c0013t0012 | a0001c0048t0093g0307a0002c0015t0001g0277a0003c0013t0012g0185 | 3 | 320 | 0.0094 | 18 | c.169 others(39): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4097487 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0004 | a0001c0002t0002a0001c0002t0102a0001c0009t0098others(1): Show | a0001c0002t0002g0281a0001c0002t0102g0298a0001c0009t0098g0289others(1): Show | 4 | 320 | 0.0125 | 18 | c.169 others(39): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4097487 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0007 | a0001c0007t0129 | a0001c0007t0129g0320 | 1 | 320 | 0.0031 | 18 | c.169 others(39): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCYAP1R1_chr7_31047308_31116474 | 31062335 | C | CTCTGAGG others(11): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0241 | 1 | 322 | 0.0031 | 18 | c.-71 others(33): Show |
ADCYAP1R1 | ENSG00000078549.16 | transcript | ENST00000304166.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADD1_chr4_2838844_2935062 | 2852207 | C | CCTTTCCT others(11): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02040.hp2 HG02132.hp1 others(12): Show |
a0002a0009 | a0002c0002a0009c0011 | a0002c0002t0001a0002c0002t0005a0009c0011t0001 | a0002c0002t0001g0021a0002c0002t0001g0023a0002c0002t0001g0159others(12): Show | 15 | 320 | 0.0469 | 18 | c.-21 others(35): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADD1_chr4_2838844_2935062 | 2852207 | C | CCTTTCTT others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19060.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0227a0001c0001t0001g0228 | 3 | 320 | 0.0094 | 18 | c.-21 others(35): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110003302 | G | GGGGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01069.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0023others(14): Show | 17 | 288 | 0.0590 | 18 | c.-50 others(29): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 4681 | chr10 | TogoVar | ||||||
ADD3_chr10_110002984_110140565 | 110003302 | G | GGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0093a0001c0001t0005g0094a0001c0001t0005g0095others(1): Show | 4 | 288 | 0.0139 | 18 | c.-50 others(29): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 4681 | chr10 | TogoVar | ||||||
ADD3_chr10_110002984_110140565 | 110062200 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 288 | 0.0035 | 18 | c.-29 others(37): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110063737 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041a0001c0001t0002g0183 | 2 | 288 | 0.0069 | 18 | c.-29 others(37): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110065539 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01168.hp2 HG01169.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0042a0001c0001t0001g0044others(8): Show | 11 | 288 | 0.0382 | 18 | c.-29 others(37): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133092784 | A | AGAGAGGG others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0214a0001c0001t0002g0248a0001c0001t0025g0047others(1): Show | 4 | 368 | 0.0109 | 18 | c.3+3 others(31): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA2_chr8_37791883_37849896 | 37796226 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0152 | 1 | 370 | 0.0027 | 18 | c.-10 others(29): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 656 | chr8 | TogoVar | ||||||
ADGRA2_chr8_37791883_37849896 | 37804100 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01167.hp2 HG02056.hp2 others(6): Show |
a0001a0005a0016 | a0001c0001a0001c0002a0005c0045others(1): Show | a0001c0001t0001a0001c0002t0001a0005c0045t0001others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(6): Show | 9 | 370 | 0.0243 | 18 | c.266 others(35): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRA2_chr8_37791883_37849896 | 37804100 | G | GAGACACA others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18942.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0324a0001c0004t0004g0323 | 2 | 370 | 0.0054 | 18 | c.266 others(35): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRA2_chr8_37791883_37849896 | 37806526 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG04115.hp1 HG04184.hp1 |
a0001a0002 | a0001c0001a0001c0012a0002c0020 | a0001c0001t0001a0001c0012t0001a0002c0020t0001 | a0001c0001t0001g0128a0001c0012t0001g0021a0002c0020t0001g0095 | 3 | 370 | 0.0081 | 18 | c.267 others(35): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRA3_chr4_22382376_22521066 | 22390320 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0006 | 1 | 290 | 0.0035 | 18 | c.262 others(37): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142501733 | T | TGGTGGTG others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 310 | 0.0032 | 18 | c.267 others(37): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRB1_chr8_142444649_142550007 | 142548044 | A | AATGATGG others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(21): Show | a0001c0001t0001g0219a0001c0001t0001g0229a0001c0001t0001g0246others(98): Show | 103 | 310 | 0.3323 | 18 | c.*36 others(29): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3038 | chr8 | TogoVar | ||||||
ADGRB2_chr1_31722117_31769340 | 31728803 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18995.hp1 NA19057.hp2 |
a0001a0004 | a0001c0002a0001c0004a0004c0008 | a0001c0002t0001a0001c0004t0001a0004c0008t0003 | a0001c0002t0001g0094a0001c0004t0001g0133a0004c0008t0003g0211 | 3 | 280 | 0.0107 | 18 | c.438 others(35): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 29/32 | chr1 | TogoVar | ||||||
ADGRB2_chr1_31722117_31769340 | 31740895 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02258.hp1 |
a0001a0014 | a0001c0004a0014c0029 | a0001c0004t0001a0014c0029t0001 | a0001c0004t0001g0028a0014c0029t0001g0140 | 3 | 280 | 0.0107 | 18 | c.179 others(35): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 11/32 | chr1 | TogoVar |